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Literature/References Our Journal References, Abstracts and Posters are excellent resources for exploring the ways in which our products are being used. We encourage you to seek out the complete documents when available. A Comparative Study of Five Technologically Diverse CFTR Testing Platforms The Cystic Fibrosis mutation “arms race”: when less is more Is Cystic Fibrosis Carrier Screening Cost Effective?

Web Resources The following external websites offer information about cystic fibrosis, including scientific facts about the disease, treatment, and the effort to find a cure: Cystic Fibrosis Foundation Boomer Esiason Foundation March of Dimes American College of Obstetricians and Gynecologists Medline Plus – Cystic Fibrosis

A Comparative Study of Five Technologically Diverse CFTR Testing Platforms

Dr. Monique A. Johnson, et al.
Journal of Molecular Diagnostics (July 2007)
Vol. 9, No. 3
Pages 401 – 407

Multiple cystic fibrosis (CF) testing platforms, using diverse and rapidly evolving technologies, are available to clinical laboratories commercially or for evaluation. Considerations when choosing a CF platform may include: sensitivity, specificity, accuracy, signal discrimination, ability to genotype, ability to reflex test, no calls/repeat rate, composition of mutation panel, hands-on time, start-to-finish time, integration into laboratory workflow, data analysis methods, flexibility regarding custom test design, and required instrumentation. Mindful of these considerations, we evaluated five technologically diverse CF platforms: 1) eSensor, an electronic detection assay system; 2) In-Plex, a signal amplification methodology using a microfluidics card; 3) oligonucleotide ligation assay, an electrophoretic-based separation of amplicon-derived ligation-generated products; and two liquid bead arrays; 4) Signature, a direct hybridization assay using allele-specific capture probes; and 5) Tag-It, an assay using allele-specific primer extension and a universal microarray. A core of 150 samples, focusing on mutations in the American College of Medical Genetics/ American College of Obstetricians and Gynecologists mutation panel, was tested throughout several runs for each platform. All of the platforms performed comparably in respect to sensitivity, specificity, and no-call rate. As our results indicate, consideration of all of the parameters evaluated may be useful when selecting the most appropriate platform for the specific setting.

The Cystic Fibrosis mutation “arms race”: when less is more

Dr. Wayne W. Grody, et al.
Genetics in Medicine (November 2007)
Vol. 9, No. 11
Pages 739 – 744

Is Cystic Fibrosis Carrier Screening Cost Effective?

S. Wei, et al.
Community Genetics (2007)
Vol. 10
Pages 103 – 109

Between 2001 and 2005, 6,166 females underwent cystic fibrosis (CF) carrier screening at our institution. Only 36% were Caucasian. We identified 143 carrier females and subsequently tested 85 of their partners. The observed carrier frequency was not significantly different than expected for any racial or ethnic group tested. We identified 6 positive couples (5 Caucasian, 1 Arab American) and 1 affected fetus. In just under 4 years, our institution spent approximately USD 334,000 on CF population screening. Comparing this to the lifetime medical cost for a CF patient, CF population-based carrier screening is cost effective at our institution, despite the high number of non-Caucasians being screened.